Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

Background: Enzyme replacement therapy (ERT) with alglucosidase alfa improves the prospect of patients with infantile-onset Pompe disease (IOPD). However, a progressive decline has been reported. Objective quantification of the response to ERT when assessing newer strategies is warranted. Methods: T...

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Autores principales:	Ronen Bar-Yoseph, Galit Tal, Elena Dumin, Moneera Hanna, Gur Mainzer, Merav Zucker-Toledano, George Shallufi, Mira Jahshan, Hanna Mandel, Lea Bentur
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	infantile-onset Pompe disease (IOPD) enzyme replacement therapy (ERT) cardiopulmonary exercise testing (CPET) 6 min walking test (6MWT) oxygen uptake at the peak of exercise (peak VO<sub>2</sub>) Medicine R
Acceso en línea:	https://doaj.org/article/5abd37d53d554ddeadf7b6ea2ac12500
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spelling	oai:doaj.org-article:5abd37d53d554ddeadf7b6ea2ac125002021-11-25T18:07:14ZIndividualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease10.3390/jpm111111052075-4426https://doaj.org/article/5abd37d53d554ddeadf7b6ea2ac125002021-10-01T00:00:00Zhttps://www.mdpi.com/2075-4426/11/11/1105https://doaj.org/toc/2075-4426Background: Enzyme replacement therapy (ERT) with alglucosidase alfa improves the prospect of patients with infantile-onset Pompe disease (IOPD). However, a progressive decline has been reported. Objective quantification of the response to ERT when assessing newer strategies is warranted. Methods: This combined retrospective-prospective study assessed the acute and long-term effects of ERT on exercise in IOPD patients. Evaluation included cardiopulmonary exercise testing (CPET), 6-min walking test (6MWT), spirometry, motor function test (GMFM-88) and enzyme blood levels. Results: Thirty-four CPETs (17 pre- and 17 two days-post ERT) over variable follow-up periods were performed in four patients. Two days following ERT, blood enzyme levels increased (median, 1.22 and 10.15 μmol/L/h (<i>p</i> = 0.003)). However, FEV1, FVC and GMFM-88, the median 6MWD and the peak VO<sub>2</sub> were unchanged. Long-term evaluations showed stabilization in young patients but progressive deterioration in adolescents. Clinical deterioration was associated with more pronounced deterioration in peak VO<sub>2</sub> followed in the decreasing order by 6MWD, FVC and GMFM-88. Conclusions: The peak VO<sub>2</sub> and 6MWD might serve as more sensitive markers to assess clinical deterioration. More studies are needed to clarify the sensitivity of the peak VO<sub>2</sub> and 6MWT for quantification of individualized response. This may be important when assessing newer strategies and formulations in IOPD.Ronen Bar-YosephGalit TalElena DuminMoneera HannaGur MainzerMerav Zucker-ToledanoGeorge ShallufiMira JahshanHanna MandelLea BenturMDPI AGarticleinfantile-onset Pompe disease (IOPD)enzyme replacement therapy (ERT)cardiopulmonary exercise testing (CPET)6 min walking test (6MWT)oxygen uptake at the peak of exercise (peak VO<sub>2</sub>)MedicineRENJournal of Personalized Medicine, Vol 11, Iss 1105, p 1105 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	infantile-onset Pompe disease (IOPD) enzyme replacement therapy (ERT) cardiopulmonary exercise testing (CPET) 6 min walking test (6MWT) oxygen uptake at the peak of exercise (peak VO<sub>2</sub>) Medicine R
spellingShingle	infantile-onset Pompe disease (IOPD) enzyme replacement therapy (ERT) cardiopulmonary exercise testing (CPET) 6 min walking test (6MWT) oxygen uptake at the peak of exercise (peak VO<sub>2</sub>) Medicine R Ronen Bar-Yoseph Galit Tal Elena Dumin Moneera Hanna Gur Mainzer Merav Zucker-Toledano George Shallufi Mira Jahshan Hanna Mandel Lea Bentur Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease
description	Background: Enzyme replacement therapy (ERT) with alglucosidase alfa improves the prospect of patients with infantile-onset Pompe disease (IOPD). However, a progressive decline has been reported. Objective quantification of the response to ERT when assessing newer strategies is warranted. Methods: This combined retrospective-prospective study assessed the acute and long-term effects of ERT on exercise in IOPD patients. Evaluation included cardiopulmonary exercise testing (CPET), 6-min walking test (6MWT), spirometry, motor function test (GMFM-88) and enzyme blood levels. Results: Thirty-four CPETs (17 pre- and 17 two days-post ERT) over variable follow-up periods were performed in four patients. Two days following ERT, blood enzyme levels increased (median, 1.22 and 10.15 μmol/L/h (<i>p</i> = 0.003)). However, FEV1, FVC and GMFM-88, the median 6MWD and the peak VO<sub>2</sub> were unchanged. Long-term evaluations showed stabilization in young patients but progressive deterioration in adolescents. Clinical deterioration was associated with more pronounced deterioration in peak VO<sub>2</sub> followed in the decreasing order by 6MWD, FVC and GMFM-88. Conclusions: The peak VO<sub>2</sub> and 6MWD might serve as more sensitive markers to assess clinical deterioration. More studies are needed to clarify the sensitivity of the peak VO<sub>2</sub> and 6MWT for quantification of individualized response. This may be important when assessing newer strategies and formulations in IOPD.
format	article
author	Ronen Bar-Yoseph Galit Tal Elena Dumin Moneera Hanna Gur Mainzer Merav Zucker-Toledano George Shallufi Mira Jahshan Hanna Mandel Lea Bentur
author_facet	Ronen Bar-Yoseph Galit Tal Elena Dumin Moneera Hanna Gur Mainzer Merav Zucker-Toledano George Shallufi Mira Jahshan Hanna Mandel Lea Bentur
author_sort	Ronen Bar-Yoseph
title	Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease
title_short	Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease
title_full	Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease
title_fullStr	Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease
title_full_unstemmed	Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease
title_sort	individualized assessment of exercise capacity in response to acute and long-term enzyme replacement therapy in pediatric pompe disease
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/5abd37d53d554ddeadf7b6ea2ac12500
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Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

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